The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome.
应用类型
WB
免疫原
Recombinant fusion protein containing a sequence corresponding to amino acids 1-170 of human BLOC1S6 (NP_036520.1).
